Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Camptodactyly
Always present (100%)HP:0012385
Fixed flexion at the elbow joint
Always present (100%)HP:0002987
Indurated skin
Always present (100%)HP:0030053
Diffusely thickened skin
Very frequent (80-99%)HP:0001072
Flexion contractures of knees
Very frequent (80-99%)HP:0006380
Lack of skin elasticity
Very frequent (80-99%)HP:0100679
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Limited shoulder movement
Very frequent (80-99%)HP:0006467
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
Increased hair growth on body
Frequent (30-79%)HP:0000998
Near sighted
Frequent (30-79%)HP:0000545
Patchy darkened skin
Frequent (30-79%)HP:0000953
Abnormal circulating lipid concentration
Occasional (5-29%)HP:0003119
Aplasia/Hypoplasia of the skin
Occasional (5-29%)HP:0008065
Atrophy of fat
Occasional (5-29%)HP:0100578
Bicuspid aortic valve
Occasional (5-29%)HP:0001647
Decreased body height
Occasional (5-29%)HP:0004322
Decreased projection of midface
Occasional (5-29%)HP:0011800
Glaucoma
Occasional (5-29%)HP:0000501
High blood pressure
Occasional (5-29%)HP:0000822
Impaired pain sensation
Occasional (5-29%)HP:0007328
Inability to make and keep healthy fat tissue
Occasional (5-29%)HP:0009125
Kidney stones
Occasional (5-29%)HP:0000787
Lens opacities
Occasional (5-29%)HP:0000518
Low body weight
Occasional (5-29%)HP:0004325
Muscle weakness
Occasional (5-29%)HP:0001324
Muscular abnormality
Occasional (5-29%)HP:0003011
Neuropathy
Occasional (5-29%)HP:0009830
NIDDM
Occasional (5-29%)HP:0005978
Retinal detachment
Occasional (5-29%)HP:0000541
Related Conditions
Quick Facts
- SNOMED CT
- 765187004
- UMLS CUI
- C1861456
- Fully Specified Name
- Stiff skin syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.